Variant (rsID / SNP)

rs121908047

rs121908047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALE. Location: chromosome 1, position 24,124,678. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GALEPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:24124678
Cytoband: 1p36.11
HGVS: NM_001008216.2(GALE):c.280G>A (p.Val94Met)
Allele change: Missense_V94M

Associated conditions / phenotypes

Galactose epimerase deficiency, severe|UDPglucose-4-epimerase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.